A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11429477



Internal ID5927997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48332719..48334389hg38UCSC Ensembl
Innerchr4:48332772..48334337hg38UCSC Ensembl
Outerchr4:48332667..48334442hg38UCSC Ensembl
chr4:48334736..48336406hg19UCSC Ensembl
Innerchr4:48334789..48336354hg19UCSC Ensembl
Outerchr4:48334684..48336459hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600462
Supporting Variants
SamplesNA19334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11429477
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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